Research

Dr Mitzi Waltz is a
senior researcher
with Rotterdam
University of Applied
Sciences, where she
is researching
housing issues and
higher education
support for adults
with autism, and a
freelance autism
consultant. Her
background includes
training autism
specialist teachers as
a lecturer with
Sheffield Hallam
University and the

What is
genetic
research
doing for us?

University of
Birmingham. She is
the parent of a young
man on the autism
spectrum

Hardly a week goes by without scientists boasting

about the advances they have made in genetic research
into autism. But how does the hype compare with reality?
Dr Mitzi Waltz looks at the state of science around the lives
of families in urgent need of practical help for their loved ones
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www.autismeye.com

Vulnerable: a worry of genetic

testing is that parents using
dubious pre-natal tests for
autism may feel social pressure
to abort their foetus

www.autismeye.com

Over the past ten years, well

over 1 billion US dollars has been
spent on autism research. Before
that, this area of science had been
badly underfunded.
Normally, the greatly increased
focus on research would have
been a welcome development.
Think of the advances that have
been made in other areas of health
and disability research: there has
been great progress against
childhood leukaemia, recent
breakthroughs in multiple sclerosis,
and the invention of fantastic
mobility aids for people with
physical disabilities.
But autism is different, and so is
much of the research that has
taken place. Genetic research has
uncovered all sorts of interesting
information about how genes
influence brain development and
behaviour, but so far very little of
practical value has come out of it
for people with autism, their
families or educators.

Genes and autisms

Twenty years ago, it was already
known that there was no single
autism gene (or genetic mutation),
although a few genetic differences
had been identified as causing
global disability patterns that
included autism. That short list
included Fragile X syndrome and
Rett syndrome, conditions that
appear to be turned on or off by
specific genetic differences.
These conditions have remained
the area where genetic research
may turn out to have practical
value in the short term for people
with autism. For example, drug
development targeted at specific
genetic variants that cause Rett
syndrome is showing promise in
early clinical trials.1
Trials like these show that
genetic research identifying
genes that may convey risk for

It is likely that
the vast
majority of these
genetic differences
are simply part of
human diversity

Professor Christopher Gillberg:

acknowledges autisms complexity

autism is now moving into

genomic research, in other words
involving a persons entire set of
genetic information. The process
involves finding out exactly what
those genes of interest do during
prenatal and later development.
Such information may provide
targets for intervention with
medications or neurodevelopmental therapies.
This wont be simple.
Researchers have found a dizzying
array of genetic differences
associated with autism. These
include some variations that are
believed to increase the severity of
autism (by also causing intellectual
disabilities, for example), while
other genetic differences may
provide clues about metabolic
variations. Patterns of genetic
difference are slowly beginning to
emerge that could correlate with
groups of symptoms.
The emerging complexity has
given credence to the call of
researchers such as Christopher
Gillberg, a professor of child and
adolescent psychiatry at
Gothenburg University in Sweden,
to think in terms of autisms, rather
than a single condition that is
individually expressed.2
But, as lecturers in the sciences
are quick to tell students, correlation
is not the same thing as causation.
A genetic difference could indicate
an area where a particular form of
intervention has more promise
but we arent there yet.
Indeed, we may never get there,
except in the case of specific,
small sub-groups. Thats because
the biggest news from genetic
research in autism is that there are
literally thousands of genetic
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Useful resources

World Autism Awareness Week is a fantastic opportunity to

raise awareness about what its like to be a family living with
autism. Join in, fundraise and help increase understanding
about autism from Saturday 2 Friday 8 April 2016.

The National Autistic Society is a charity

registered in England and Wales (269425)
and
intScotland
8
Au
i s m | e y e(SC039427).
Issue 20 2015

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PA ISE OU E
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Y H ON

Heidi and her autistic son

raised awareness in 2015 and
loved it - join us this year!
www.autismeye.com

photograph of prof. gillberg by robert emillson, courtesy of university of gothenberg

www.autism.org.uk/WAAW

lN
 ational Autistic Society (2015): The genetics of
autism, www.autism.org.uk/24984. Good overview
of what various kinds of genetic research involve
and current results.
lS
 imons Foundation (2015): SFARI Gene,
https://gene.sfari.org. Managed, regularly updated
database of genetic research about autism.
lA
 utism Speaks/Google (2015): MSSNG project,
www.mss.ng/. Open-source research platform for
scientists using a database of sequenced genetic
material from 10,000 families with one or more
autistic members.

differences that may contribute to

ASDs, very few of which appear to
automatically cause impairment.
These genetic differences are
widely distributed among nonautistic family members, as well as
the general public. And, like most
genetic differences, they appear to
have both positive and negative
potential, sometimes causing
benefits in one area while having a
less desirable impact elsewhere.
There are also far more de novo
(non-inherited) genetic differences
in autism than was once thought.3
To quote from one recent stateof-the-science survey, most
genetic risk for autism resides with
common variation.4 In other words,
it is likely that the vast majority of
these genetic differences are
simply part of human diversity. Our
efforts to find genes that make
people different from an ideal or
norm is revealing that humans are
actually far more diverse
genetically than was once thought.
This should not be surprising, as it
is well known that diversity in
nature has a strong protective
value, whereas limiting diversity
(for example, through monoculture
in farming) usually introduces new
and often catastrophic problems.
For this reason, many autism
researchers find possible wider

Research

use of genetic testing more

worrying than reassuring. First,
there is a concern that parents
using pre-natal tests for autism
not currently licensed in the UK,
but marketed by some overseas
clinics (and of dubious quality)
may feel strong social pressure to
abort. This has happened in the
case of testing for Down syndrome,
which now results in more than 90
per cent of parents told they are
carrying a high risk foetus
choosing to end the pregnancy.
Post-natal genetic testing is
increasingly indicated in cases
where diagnosis is especially
complicated, or where autism is
accompanied by physical
differences or indications of a
known genetic condition such as
Fragile X. In the UK, genetic testing
is supported in the NICE guidelines

The emerging
complexity has
given credence to the
call of researchers to
think in terms of
autisms, rather than
a single condition
under such circumstances.5
Research indicates few other
direct benefits today, although test
results can sometimes lead
parents, teachers or health
professionals to be more accepting
of a persons differences. One
could say this benefit comes not
from the test, but from a change in
attitude based on it.
Genetic testing is also still not
well developed. In a significant
study published earlier this year6,
only 15 out of 50 autistic children
tested with state-of-the-art

John Elder Robison: We should be

helping autistic people right now

microarray scanning were found to

have a known genetic risk factor
which may or may not have been
the cause of their ASD. Another 17
tests revealed a possible but
unknown difference. The other 18
families were left completely in the
dark. Of course, for those whose
child is found to have a specific,
known variant, targeted support via
parents groups, such as the Rare
Chromosome Disorder Support
Group (www.rarechromo.org), can
be incredibly helpful.
To sum up, genetic research is
of great interest, can benefit a few
people with autism and their
families right now, and may find
answers for more tomorrow. But
one must question the disparity of
funding between this type of
research and the lack of support
experienced by most children and
adults with autism and their families.
As John Elder Robison, an adult
with Asperger syndrome and
author, wrote in response to the
announcement of Autism Speaks
MSSNG project, which sets out to
sequence the DNA of 10,000
families affected by autism:
Genetics is important. But it is not
job #1 for this community We
should be helping autistic people
right now.7

References
1 International Rett Syndrome Foundation (2015): Rett Syndrome clinical trials, www.rettsyndrome.org/research/clinical-trials
2 Coleman, Mary and Gillberg, Christopher (2012): The Autisms, Fourth Edition, Oxford University Press.
3 Ronemus, M. et al. (2014): The role of de novo genetic mutations in the genetics of autism spectrum disorders, Nature Reviews
Genetics, 15: pp. 133-141.
4 Gaugler, T. at al. (2015): Most genetic risk for autism rests with common variation, Nature Genetics, 46: pp. 881-885.
5 NICE (2011) Autism in under-19s: Recognition, referral and diagnosis, www.nice.org.uk/guidance/cg128
6 Reiff, M. et al. (2015) Parents perceptions of the usefulness of chromosomal microarray analysis for children with autism spectrum
disorders, Journal of Autism and Developmental Disorders, 45(10): pp. 3262-3275.
7 Robison, John Elder (2014): Whats MSSNG in autism?, http://jerobison.blogspot.nl/2014/12/whats-mssng-in-autism.html
www.autismeye.com

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